{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:02:38Z","timestamp":1789779758836,"version":"4.0.1"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,5]]},"abstract":"<jats:sec>\n                    <jats:title>ABSTRACT.<\/jats:title>\n                    <jats:p>\n                      Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized by the presence of persistent or recurrent hematuria. The clinical and pathologic features of this syndrome resemble those of early Alport syndrome (AS), and for this reason a common molecular defect has been proposed. The\n                      <jats:italic toggle=\"yes\">COL4A3\/4<\/jats:italic>\n                      genes seem to be involved in both autosomal AS and FBH. This study involves a linkage analysis for the\n                      <jats:italic toggle=\"yes\">COL4A3\/4<\/jats:italic>\n                      loci and a search for mutations within these genes in 11 biopsy-proven FBH families. Haplotype analysis showed that linkage to the\n                      <jats:italic toggle=\"yes\">COL4A3\/4<\/jats:italic>\n                      locus could not be excluded in eight of nine families. One family was not linked to this locus; however, it included three affected women who could be X-linked AS carriers. Two families were too small to perform linkage analysis.\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      mutation screening disclosed six new pathogenic mutations, two in the\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      gene (G985V and G1015E) and four in the\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      gene (3222insA, IVS23-1G&gt;C, 31del11, and G960R). It is the first time that mutations within the\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      gene are described in families with FBH. This study clearly demonstrates the main role of the\n                      <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                      genes in the pathogenesis of FBH.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.v1351248","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T09:57:13Z","timestamp":1619431033000},"page":"1248-1254","source":"Crossref","is-referenced-by-count":98,"title":["Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria"],"prefix":"10.1681","volume":"13","author":[{"given":"Ce[Combining Grave Accent]lia","family":"Badenas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Praga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara","family":"Taz\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Arrondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Armengol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amado","family":"Andr\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Antonio","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xose","family":"Lens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"D\u00e1vila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montse","family":"Mila[Combining Grave Accent]","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Darnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-200205000-00014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:30:17Z","timestamp":1786131017000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-200205000-00014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.v1351248","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2002,5]]}}}